KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1561273261
rs1561273261
0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0266483
Disease: Pachygyria
Pachygyria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0